NM_001395656.1(ROBO2):c.3148+2T>C AND Vesicoureteral reflux 2

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 6, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000490492.3

Allele description [Variation Report for NM_001395656.1(ROBO2):c.3148+2T>C]

NM_001395656.1(ROBO2):c.3148+2T>C

Gene:

ROBO2:roundabout guidance receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p12.3

Genomic location:

Preferred name:

NM_001395656.1(ROBO2):c.3148+2T>C

HGVS:

NC_000003.12:g.77602493T>C
NG_027734.2:g.1700800T>C
NM_001128929.3:c.3184+2T>C
NM_001290039.2:c.3148+2T>C
NM_001290040.2:c.3148+2T>C
NM_001290065.2:c.1357+2T>C
NM_001378190.1:c.3196+2T>C
NM_001378191.1:c.3196+2T>C
NM_001378192.1:c.3217+2T>C
NM_001378193.1:c.3136+2T>C
NM_001378194.1:c.3208+11T>C
NM_001378195.1:c.3196+2T>C
NM_001378196.1:c.3196+2T>C
NM_001378197.1:c.3136+2T>C
NM_001378198.1:c.3217+2T>C
NM_001378199.1:c.3217+2T>C
NM_001378200.1:c.3196+2T>C
NM_001378201.1:c.3196+2T>C
NM_001378202.1:c.3139+11T>C
NM_001378203.1:c.3196+2T>C
NM_001394212.1:c.3205+2T>C
NM_001394213.1:c.3217+2T>C
NM_001394214.1:c.3205+2T>C
NM_001395656.1:c.3148+2T>CMANE SELECT
NM_001395657.1:c.3205+2T>C
NM_002942.5:c.3136+2T>C
NC_000003.11:g.77651644T>C
NM_002942.5:c.3136+2T>C

Links:

dbSNP: rs868180675

NCBI 1000 Genomes Browser:

rs868180675

Molecular consequence:

NM_001378194.1:c.3208+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001378202.1:c.3139+11T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001128929.3:c.3184+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001290039.2:c.3148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001290040.2:c.3148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001290065.2:c.1357+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378190.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378191.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378192.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378193.1:c.3136+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378195.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378196.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378197.1:c.3136+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378198.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378199.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378200.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378201.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378203.1:c.3196+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001394212.1:c.3205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001394213.1:c.3217+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001394214.1:c.3205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001395656.1:c.3148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001395657.1:c.3205+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_002942.5:c.3136+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Vesicoureteral reflux 2 (VUR2)
Identifiers:: MONDO: MONDO:0012573; MedGen: C1970483; Orphanet: 289365; OMIM: 610878

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267477	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 17357069, 25741868
SCV005657752	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 6, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267477

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

SCV005657752

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 6, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, et al.

Am J Hum Genet. 2007 Apr;80(4):616-32. Epub 2007 Feb 14.

PubMed [citation]

PMID:: 17357069
PMCID:: PMC1852714

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267477.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV005657752.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 1, 2025

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